SPG21 Recombinant Protein
- Known as:
- SPG21 Recombinant Protein
- Catalog number:
- XW-RP3255
- Product Quantity:
- 0.05 mg
- Category:
- -
- Supplier:
- Prosci
- Gene target:
- SPG21 Recombinant Protein
Related genes to: SPG21 Recombinant Protein
- Gene:
- SPG21 NIH gene
- Name:
- SPG21 abhydrolase domain containing, maspardin
- Previous symbol:
- -
- Synonyms:
- ACP33, GL010, BM-019, MAST, ABHD21
- Chromosome:
- 15q22.31
- Locus Type:
- gene with protein product
- Date approved:
- 2004-04-30
- Date modifiied:
- 2019-01-28
Related products to: SPG21 Recombinant Protein
Related articles to: SPG21 Recombinant Protein
- Hereditary spastic paraparesis (HSP) are a group of disabling neurological disorders classically defined by progressive spasticity and weakness at lower limbs. Non-motor symptoms may be part of the clinical phenotype. Our aim was to evaluate cognitive abilities, especially executive functions and verbal memory, in different forms of HSP. - Source: PubMed
Publication date: 2026/01/26
Falcone Grazia Maria IgeaBonanno LillaGraceffa Anita Maria StellaAlibrandi AngelaMusumeci Olimpia - Spastic paraplegia 21 is a neurodegenerative disease characterized by the degeneration of corticospinal axons. It is caused by mutations in the SPG21 gene, which encodes maspardin, a cytosolic protein of unknown function that associates with the late endosomal/lysosomal membrane. Intriguingly, we found that the phosphorylation level of the transcription factor EB (TFEB), a master regulator of the CLEAR gene network, is decreased in SPG21 knockout cells, leading to TFEB nuclear translocation. Our investigations revealed that the Rag-mediated presentation of TFEB to the mTOR kinase and its subsequent phosphorylation is disturbed by a delocalization of the RAB7 GTPase, a maspardin-binding partner, from retromer-positive late endosomes to lysosomes. This redistribution decreases the interaction between RAB7 and its GTPase-activating protein (GAP), TBC1D5. Consequently, RAB7 remains primarily GTP-bound, recruiting more FYCO1 to lysosomes and promoting the anterograde movement of these organelles along microtubules. These findings identify maspardin as a newly discovered RAB7 effector and shed light on several consequences of its deficiency. - Source: PubMed
Publication date: 2025/12/16
Jacqmin ThomasGilis FlorentineAlbert MartineGaussin Jean-FrançoisJadot MichelBoonen Marielle - The epigenome may represent a link between environmental factors and the genome in determining obesity risk. Alterations in the methylation pattern in DNA can affect gene expression. Therefore, the objective of this study was to evaluate global DNA methylation in children who develop obesity, establishing a comparison between them according to birth weight. - Source: PubMed
Publication date: 2025/09/16
Alfaro Juan ManuelVasquez Elsa MaríaRodriguez-Osorio NélidaUrrego Rodrigo - Hereditary spastic paraplegia type 21 (SPG21) is an inherited neurological disorder caused by biallelic mutations in the gene, which encodes a protein named SPG21 or maspardin. Herein, we report that the SPG21 protein localizes to endolysosomes through interaction with the GTP-bound form of RAB7A. Disease-associated variants reduce expression of SPG21 and disrupt its endolysosomal localization in both nonneuronal cells and neurons. Consistent with this localization, functional dependency analysis links SPG21 to endolysosomal and mTORC1 signaling pathways. Biochemical studies reveal that SPG21 depletion does not affect phosphorylation of canonical mTORC1 substrates such as ULK1, S6K1, 4E-BP1, but reduces phosphorylation of the noncanonical mTORC1 substrate TFEB. This enhances nuclear localization of TFEB and expression of a subset of TFEB-target genes. We conclude that SPG21 acts as a RAB7A effector that promotes noncanonical mTORC1-catalyzed phosphorylation of TFEB, thereby suppressing its nuclear localization and transcriptional activity. These findings link SPG21 dysfunction to altered endolysosomal signaling, offering new insights into SPG21 pathogenesis. - Source: PubMed
Publication date: 2025/08/20
Kunselman Jennifer MWilliamson Chad DGolding Adriana EJia RuiSohn MiraDale Ryan KBonifacino Juan S - The microenvironment of intervertebral disc degeneration (IVDD) is characterized by oxidative stress, leading to the senescence of nucleus pulposus-derived mesenchymal stem cells (NPMSCs). The purpose of this study was to investigate the competitive endogenous RNA mechanism involved in the senescence of NPMSCs induced by tert-butyl hydroperoxide (TBHP). - Source: PubMed
Publication date: 2025/02/07
Zhang YongboYang ShengYou XuanLi ZhengguangChen LiuyangDai RuiSun HuaZhang Liang